References
- Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q. Variants in RCBTB1 are associated with autosomal recessive retinitis pigmentosa but not autosomal dominant FEVR. Curr Eye Res. 2021;46(6):839–844.
- Wu JH, Liu JH, Ko YC, Wang CT, Chung YC, Chu KC, Liu TT, Chao HM, Jiang YJ, Chen SJ, et al. Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016;25(8):1637–47. doi:https://doi.org/10.1093/hmg/ddw041.
- Kashani AH, Learned D, Nudleman E, Drenser KA, Capone A, Trese MT. High prevalence of peripheral retinal vascular anomalies in family members of patients with familial exudative vitreoretinopathy. Ophthalmology. 2014;121(1):262–68. doi:https://doi.org/10.1016/j.ophtha.2013.08.010.
- Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, et al. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002;32(2):326–30. doi:https://doi.org/10.1038/ng957.
- El-Brolosy MA, Kontarakis Z, Rossi A, Kuenne C, Günther S, Fukuda N, Kikhi K, Boezio GLM, Takacs CM, Lai SL, et al. Genetic compensation triggered by mutant mRNA degradation. Nature. 2019;568(7751):193–97. doi:https://doi.org/10.1038/s41586-019-1064-z.